MYOC myocilin

Information
Symbol
MYOC
Type
protein-coding
Description
myocilin
Entrez Gene ID
4653
Genome
hg19
Position
chr1:171,604,557-171,621,828
Genome
hg38
Position
chr1:171,635,417-171,652,688
MIM
601652 OMIM
HGNC
HGNC:7610 HGNC
Ensembl
ENSG00000034971 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 42 18
Likely pathogenic 2 44
Benign 62 40
Likely benign 12 80
Uncertain significance 8 436
Ranking
ClinVar
0
530
2
86
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM GLC1A
SYNONYM GPOA
SYNONYM JOAG
SYNONYM JOAG1
SYNONYM TIGR
MIM 601652 OMIM
HGNC HGNC:7610 HGNC
Ensembl ENSG00000034971 Ensembl
AllianceGenome HGNC:7610
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000037502.11 hg38 chr1 171,635,417 171,652,688 17,272
ENST00000037502.11 hg19 chr1 171,604,557 171,621,828 17,272
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